Linked Data
ClinVar Variation Id:
476690
ClinVar RCV Id:
RCV000538982
dbSNP Id:
rs1451629862
gnomAD v2:
11-32410649-G-T
gnomAD v4:
11-32389103-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32389103G>T , CM000673.2:g.32389103G>T | GRCh38 |
| NC_000011.9:g.32410649G>T , CM000673.1:g.32410649G>T | GRCh37 |
| NC_000011.8:g.32367225G>T | NCBI36 |
| NG_009272.1:g.51439C>A , LRG_525:g.51439C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1464C>A | ENSP00000331327.5:p.His488Gln | |
| ENST00000379077.9:c.*708C>A | ENSP00000368368.5:n.*708C>A | |
| ENST00000379079.8:c.864C>A | ENSP00000368370.2:p.His288Gln | |
| ENST00000448076.9:c.1515C>A | ENSP00000413452.5:p.His505Gln | |
| ENST00000452863.10:c.1524C>A MANE Select | ENSP00000415516.5:p.His508Gln | |
| ENST00000526685.2:n.969C>A | ||
| ENST00000639563.3:c.1473C>A | ENSP00000492269.3:p.His491Gln | |
| ENST00000639907.2:n.658C>A | ||
| ENST00000640146.2:c.849C>A | ENSP00000491984.2:p.His283Gln | |
| ENST00000650745.1:n.1334C>A | ||
| ENST00000650861.1:n.2096C>A | ||
| ENST00000650986.1:n.187C>A | ||
| ENST00000651459.1:c.295C>A | ||
| ENST00000651533.1:n.561C>A | ||
| ENST00000651668.1:n.461C>A | ||
| ENST00000651794.1:n.1367C>A | ||
| ENST00000651819.1:n.449C>A | ||
| ENST00000652579.1:n.784C>A | ||
| ENST00000652724.1:n.714C>A | ||
| ENST00000332351.7:c.1509C>A | ENSP00000331327.3:p.His503Gln | |
| ENST00000379077.7:c.*708C>A | ENSP00000368368.3:n.*708C>A | |
| ENST00000379079.6:c.864C>A | ENSP00000368370.2:p.His288Gln | |
| ENST00000448076.7:c.1500C>A | ENSP00000413452.3:p.His500Gln | |
| ENST00000452863.7:c.1449C>A | ENSP00000415516.3:p.His483Gln | |
| ENST00000527882.5:c.490C>A | ||
| ENST00000530998.5:c.822C>A | ENSP00000435307.1:p.His274Gln | |
| NM_000378.4:c.1449C>A | NP_000369.3:p.His483Gln | |
| NM_001198551.1:c.864C>A , LRG_525t2:c.864C>A | NP_001185480.1:p.His288Gln | |
| NM_001198552.1:c.822C>A | NP_001185481.1:p.His274Gln | |
| NM_024424.3:c.1500C>A | NP_077742.2:p.His500Gln | |
| NM_024426.4:c.1509C>A | NP_077744.3:p.His503Gln | |
| NM_000378.5:c.1464C>A | NP_000369.4:p.His488Gln | |
| NM_024424.4:c.1515C>A | NP_077742.3:p.His505Gln | |
| NM_024426.5:c.1524C>A | NP_077744.4:p.His508Gln | |
| NM_001367854.1:c.336C>A | NP_001354783.1:p.His112Gln | |
| NR_160306.1:n.1856C>A | ||
| NM_000378.6:c.1464C>A | NP_000369.4:p.His488Gln | |
| NM_001198552.2:c.822C>A | NP_001185481.1:p.His274Gln | |
| NM_024424.5:c.1515C>A | NP_077742.3:p.His505Gln | |
| NM_024426.6:c.1524C>A MANE Select | NP_077744.4:p.His508Gln |